RT Journal Article
T1 Transforming NICU care: rapid WES and transcriptomics—validation, social impact, and cost analysis
A1 Martín López-Pardo, Beatriz
A1 Barbosa Gouveia, Sofia
A1 Vázquez Mosquera, María Eugenia
A1 Reyes, Francisco
A1 Falcão Reis, Claudia
A1 Laranjeira, Francisco
A1 Sánchez-Tamayo, Tomas
A1 Sánchez Pintos, Paula
A1 Durán Fernández-Feijoo, Cristina
A1 Pérez Muñuzuri, Alejandro
A1 Couce Pico, María Luz
K1 Cost analysis
K1 Neonatal genomics
K1 RNA analysis
K1 Neonatal Intensive Care
K1 Parenting Stress Index
AB Genetic diseases significantly contribute to morbidity and mortality in neonatal intensive care units (NICUs), with diagnoses often delayed due to clinical complexity. Rapid whole-exome sequencing (rWES) and transcriptomic analysis (RNA-seq) may improve diagnostic rates and clinical outcomes. Prospective study of neonates admitted to NICUs with suspected genetic diseases (n = 34) who underwent rWES, followed by RNA-seq applied in cases in which rWES failed to establish diagnosis. The primary outcome was the diagnostic rate. Secondary outcomes included time to diagnosis, clinical utility, parental stress, and cost-effectiveness. rWES achieved a 41% diagnostic rate with a mean turnaround time of 8.57 ± 2.62 days. RNA-seq increased the diagnostic yield by 6%, resulting in a total diagnostic rate of 47%. The use of rWES reduced unnecessary procedures by 15% and shortened hospital stays by 25% (p < 0.01). Cost-effectiveness analysis indicated that rWES was economically advantageous, with an ICER of < €9000. Relative to pre-diagnosis levels, parental anxiety decreased by 30% in cases in which diagnosis was achieved but increased by 15% in cases in which no diagnosis was established (p < 0.05).Conclusion: Implementing rWES in NICUs improves care for critically ill neonates by providing timely, accurate diagnosis, reducing healthcare costs, and alleviating parental anxiety. RNA-seq further enhances diagnostic accuracy.
PB Springer
YR 2025
FD 2025-06-27
LK https://hdl.handle.net/10347/42582
UL https://hdl.handle.net/10347/42582
LA eng
NO Martín López-Pardo, B., Barbosa-Gouveia, S., Vázquez-Mosquera, ME. et al. Transforming NICU care: rapid WES and transcriptomics—validation, social impact, and cost analysis. Eur J Pediatr 184, 453 (2025). https://doi.org/10.1007/s00431-025-06225-2
NO Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. This study was supported by a grant from the Fondo de Investigación Sanitaria (FIS), project code PI20/01150, funded by the Instituto de Salud Carlos III (ISCIII).
DS Minerva
RD 22 abr 2026